Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre

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dc.contributor.authorWu, Dandanen_US
dc.contributor.authorChen, Yangen_US
dc.contributor.authorChen, Qimingen_US
dc.contributor.authorWang, Guomingen_US
dc.contributor.authorXu, Xiaofengen_US
dc.contributor.authorPeng, A.en_US
dc.contributor.authorHAO, Jinen_US
dc.contributor.authorHe, Inguangen_US
dc.contributor.authorLi Huangen_US
dc.contributor.authorDai, Jiewenen_US
dc.date.accessioned2020-11-18T10:20:50Z
dc.date.available2020-11-18T10:20:50Z
dc.date.issued2019-05
dc.description.abstractDiagnosis and treatment of velocardiofacial syndrome (VCFS) with variable genotypes and phenotypes are considered to be very complicated. Establishing an exact correlation between the phenotypes and genotypes of VCFS is still a challenging. In this paper, 88 Chinese VCFS patients were divided into five groups based on palatal anomalies and one or two of other four common phenotypes, and copy number variations (CNVs) were detected using multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) and quantitative polymerase chain reaction. The findings showed that palatal anomalies and characteristic malformation of face were important indicators for 22q11.2 microdeletion, and there was difference inthe phenotypic spectrum between the duplication and deletion of 22q11.2. MLPA was a highly cost-effective, sensitive and preferred method for patients with 22q11.2 deletion or duplication. Our results also firstly reported that all three patients who simultaneously exhibited palatal anomalies and cognitive disorder, without other phenotypes, have Top3b duplication, which strongly suggested thatTop3b may be a pathogenic gene for these patients. Further, the findings showed that patients with palatal anomalies and congenital heart disease or immune deficiency, with or without other uncommon phenotypes, exhibited heterogeneity in CNVs, including 4q34.1-qter, 6q25.3, 4q23, Xp11.4, 13q21.1, 17q23.2, 7p21.3, 2p11.2, 11q24.3 and 16q23.3, and some possible pathogenic genes, including BCOR, PRR20A, TBX2, SMYD1, KLKB1 and TULP4 have been suggested. For these patients, aCGH, whole genomic sequencing,combined with references and phenomics database to find pathogenic gene,may be choices of priority. Taking these findings together, we offered an alternative method for diagnosis of Chinese VCFS patients based on this phenotypic strategy.en_US
dc.identifier.affiliationsDepartment of Oral and Cranio-maxillofacial Surgery, National Clinical Research Center for Oral Disease, Shanghai Ninth People’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, People’s Republic of Chinaen_US
dc.identifier.affiliationsShanghai Key Laboratory of Stomatology, Shanghai 200011, People’s Republic of Chinaen_US
dc.identifier.affiliationsState Key Laboratory of Oral Diseases, West China School of Stomatology, Chengdu 610041, People’s Republic of Chinaen_US
dc.identifier.affiliationsHarvard School of Dental Medicine, Harvard University, Boston 02125, USAen_US
dc.identifier.affiliationsDepartment of Plastic Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, People’s Republic of Chinaen_US
dc.identifier.affiliationsDepartment of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Fujian Medical University, Fuzhou, People’s Republic of Chinaen_US
dc.identifier.citationWu Dandan, Chen Yang, Chen Qiming, Wang Guoming, Xu Xiaofeng, Peng A., Hao Jin, He Inguang, Li Huang, Dai Jiewen. Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre. Journal of Genetics. 2019 May; 98: 1-11en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215455
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume98en_US
dc.source.urihttps://www.ias.ac.in/article/fulltext/jgen/098/0042en_US
dc.subjectdiagnosisen_US
dc.subjectChinese patientsen_US
dc.subjectvelocardiofacial syndrome patientsen_US
dc.subjectphenotypic strategyen_US
dc.titleClinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centreen_US
dc.typeJournal Articleen_US
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